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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX1

Variant:p.G384R

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TBX1

NM_001379200.1:p.G384R

hg38:chr22:19766502 G>C

Associated Papers

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

39604264 (PubMed )

Supplement: mmc1.pdf

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